Canonical Allele Identifier: CA357097

Gene: VHL

Linked Data

• ClinVar Variation Id: 223211
• ClinVar RCV Id: RCV000208839
• dbSNP Id: rs869025653
• COSMIC: COSM14285 ; COSM17977 ; COSM18285
• MyVariant Identifiers: chr3:g.10188301dupT (hg19) ; chr3:g.10188301_10188302insT (hg19) ; chr3:g.10188297_10188298insT (hg19) ; chr3:g.10146617dupT (hg38)
• CIViC: CA357097

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146617dup , CM000665.2:g.10146617dup	GRCh38
NC_000003.11:g.10188301dup , CM000665.1:g.10188301dup	GRCh37
NC_000003.10:g.10163301dup	NCBI36
NG_008212.3:g.9983dup , LRG_322:g.9983dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*121dup	ENSP00000512434.1:n.*121dup
ENST00000696143.1:c.600-3170dup	ENSP00000512435.1:n.600-3170dup
ENST00000696153.1:c.444dup	ENSP00000512444.1:p.Ala149CysfsTer?
ENST00000256474.3:c.444dup MANE Select	ENSP00000256474.3:p.Ala149CysfsTer25
ENST00000256474.2:c.444dup	ENSP00000256474.2:p.Ala149CysfsTer25
ENST00000345392.2:c.341-3170dup	ENSP00000344757.2:n.341-3170dup
ENST00000477538.1:n.580dup
NM_000551.3:c.444dup , LRG_322t1:c.444dup	NP_000542.1:p.Ala149CysfsTer25
NM_198156.2:c.341-3170dup	NP_937799.1:n.341-3170dup
NM_001354723.1:c.*18-3170dup	NP_001341652.1:n.*18-3170dup
NM_000551.4:c.444dup MANE Select	NP_000542.1:p.Ala149CysfsTer25
NM_001354723.2:c.*18-3170dup	NP_001341652.1:n.*18-3170dup
NM_198156.3:c.341-3170dup	NP_937799.1:n.341-3170dup